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Agenda

Join MitoAction and the International Network for Fatty Acid Oxidation Research and Management (INFORM) for the International Metabolic Conference for Fatty Acid Oxidation Disorders on July 25-26, 2026. This year’s conference is virtual and will also include pre-conference presentations and roundtables held the week before the conference.

Pre-Conference
Saturday, July 25
Sunday, July 26
Downloadable Agenda Coming Soon

The conference schedule is subject to change.

Schedule for Pre-Conference Roundtables & Presentations

This year, we will be holding pre-conference gatherings—a combination of presentations and roundtables—on the week leading up to the conference. Although presentations will be recorded, roundtable discussions will NOT be recorded to protect patient privacy. Presentations are hosted and led by a metabolic clinician. Roundtables are led by our conference committee leaders and are a great space to meet both patients, caregivers and friends with an FAOD. These meaningful spaces will allow you time to pick the brains of others in our community, share your experiences, and build lasting friendships!

Sunday, July 19
2 events found.

Events for July 19, 2026

Today

3:00 pm

July 19 @ 3:00 pm - 4:00 pm

Presentation: “Breaking Down” FAODs: MCADD, LCHADD, CPT2, VLCADD (and more!)

Presented by: Lauren O’Grady, MS, CGC

Presentation: “Breaking Down” FAODs: MCADD, LCHADD, CPT2, VLCADD (and more!)

July 19 @ 3:00 pm – 4:00 pm

The FAOD community is comprised of numerous types of FAODs.  How do they compare, what enzymes are affected, and why does this lead to different treatments? Did you ever wish someone would show you a picture and really “Break things down.” Join this discussion!

About the Speaker

Lauren O’Grady, MS, CGC
Lauren O’Grady, MS, CGC

Lauren O'Grady, MS, CGC is a senior genetic counselor in the medical genetics division at Massachusetts General Hospital (MGH) where she has practiced since 2015. She specializes in biochemical genetics and newborn screening. She works closely with patients of all ages with inborn errors of metabolism. 

7:00 pm

July 19 @ 7:00 pm - 8:00 pm

You Are Not Alone: Undiagnosed Community Roundtable

You Are Not Alone: Undiagnosed Community Roundtable

July 19 @ 7:00 pm – 8:00 pm

Meet up with members of the Mito/FAOD community who are genetically undiagnosed. Join in to share stories, resources, and support each other on our undiagnosed journeys.

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Monday, July 20
1 event found.

Events for July 20, 2026

Today

7:00 pm

July 20 @ 7:00 pm - 8:00 pm

Roundtable Discussion: Maintaining Mental Health Through Different Waves of Your FAOD

Roundtable Discussion: Maintaining Mental Health Through Different Waves of Your FAOD

July 20 @ 7:00 pm – 8:00 pm

If you are an adult patient or a caregiver of an FAOD you know that there are unique challenges when managing a chronic illness. This is a safe space to discuss how to navigate these ups and downs, share meaningful resources, and connect on a deeper level while creating meaningful strategies. This unique space will be co-hosted by Sharickah Rogers an LPC with two boys w/ VLCAD, Tasia Rechisky an adult rare diseas advocate w/ VLCAD and is an advocate for rare disease and Yi Tak (Daisy) Tsang, a clinical assistant professor in Pediatric Psychology at the U of M who has presented/led roundtables at the FAOD conference the last two years!!

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Tuesday, July 21
2 events found.

Events for July 21, 2026

Today

12:00 pm

July 21 @ 12:00 pm - 1:00 pm

Presentation: Navigating the Medical System as an FAOD Adult: Exploring the Unknown

Presented by: Jessica Gold, MD, PhD Amanda Pritchard, MD

Presentation: Navigating the Medical System as an FAOD Adult: Exploring the Unknown

July 21 @ 12:00 pm – 1:00 pm

Adulting with an FAOD presents unique challenges and questions. This presentation will discuss the multidisciplinary care team, how to improve coordination of care and how clinicians safely apply “trial and error” for situations where they have no clear data.

About the Speaker

Jessica Gold, MD, PhD
Jessica Gold, MD, PhD

Dr. Jessica Gold is a medical geneticist trained in pediatrics and internal medicine with a fellowship at Children’s Hospital of Philadelphia. She currently practices at Northwell Health in NY. Both her clinical work and research is dedicated to helping adolescents and young adults with inherited metabolic disorders prepare for adulthood. For many young people, puberty and reproductive health are important milestones in emerging adulthood. Yet, clinicians lack information on these topics for people with FAODs, which impacts their ability to provide guidance. Dr. Gold is embarking on a project that is the first step in learning how people with FAODs approach puberty and reproductive health. 

Amanda Pritchard, MD
Amanda Pritchard, MD

Dr. Amanda Barone Pritchard is an Associate Professor of Pediatrics at University of Michigan Health in the division of Pediatric Genetics, Metabolism, and Genomic Medicine. Dr. Pritchard attended the University of Pittsburgh School of Medicine before completing Pediatric Residency at Lurie Children’s Hospital in Chicago. She then trained in Medical Genetics and Genomics and completed a Medical Biochemical Genetics fellowship at the Children’s Hospital of Philadelphia. She has been involved in several clinical trials for inborn errors of metabolism and aids in coordination of follow-up for abnormal newborn screens. Dr. Pritchard serves as Program Director for the Medical Biochemical Genetics Fellowship at the University of Michigan.

7:00 pm

July 21 @ 7:00 pm - 8:00 pm

Roundtable Discussion: All Things MCADD

Roundtable Discussion: All Things MCADD

July 21 @ 7:00 pm – 8:00 pm

From infancy to the teenage years, this roundtable will be a space for MCADD families to share their experiences and learn from one another. MCADD is the most common FAOD and is largely treated through avoiding fasting. Our kids tend to be outwardly healthy most of the time, but MCADD is always there and has a tendency to sneak up on us in different ways at different stages of life. Let’s connect and discuss all things MCADD!

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Wednesday, July 22
1 event found.

Events for July 22, 2026

Today

12:00 pm

July 22 @ 12:00 pm - 1:00 pm

Roundtable Discussion: “International Experience”

Roundtable Discussion: “International Experience”

July 22 @ 12:00 pm – 1:00 pm

Families with FAODs exist all over the world. In this fun space we will explore: How do you manage your/your child’s medical routine/diet in your own country? What are creative ways to organize traveling to other countries? How to the health care systems vary in different spaces? Where do you feel the most safe traveling? And what should you consider traveling with/what is available in different countries?

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Thursday, July 23
2 events found.

Events for July 23, 2026

Today

12:00 pm

July 23 @ 12:00 pm - 1:00 pm

Roundtable Discussion: Navigating School Life

Roundtable Discussion: Navigating School Life

July 23 @ 12:00 pm – 1:00 pm

This roundtable discussion will bring together families and educators to explore how to successfully support students in the school setting. Participants will learn practical strategies for navigating school systems and educating teachers/staff about medical and academic needs to promote safety, inclusion, and student success.

7:00 pm

July 23 @ 7:00 pm - 8:00 pm

Roundtable Discussion: Navigating Romantic Relationships with an FAOD

Roundtable Discussion: Navigating Romantic Relationships with an FAOD

July 23 @ 7:00 pm – 8:00 pm

Navigating romantic relationships can be challenging, and having an FAOD adds additional layers to the mix. Come chat with newlyweds Alex and Tanner Hansen to discuss all the stage and components that come with partnering. Including: Important conversation to have while dating, how to plan for marriage with a disability, birth control considerations, and more! Bring your questions and topics you to sort through!

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Schedule for Saturday, July 25, 2026

10 events found.

Events for July 25, 2026

Today

10:00 am

July 25 @ 10:00 am - 10:15 am

Welcome

Presented by: Kira Mann

Welcome

July 25 @ 10:00 am – 10:15 am

About the Speaker

Kira Mann
Kira Mann

Kira serves as CEO of MitoAction and champions the growth of the programs and services offered by MitoAction. Her priority is to ensure that each and every person affected by mitochondrial disease knows they are not alone and that the MitoAction team will be here every step of their journey. Kira is committed to stewarding key funding opportunities, strengthening the organization’s business development and governance and working with the community to increase MitoAction’s national impact and presence in the areas of aware- ness, education and advocacy.

“I am honored to lead this incredible team who works tirelessly each and every day on behalf of the amazing community we serve. I love hearing from our families, and I welcome you to reach out, share your story and help ensure that MitoAction is doing everything we can to pro- vide the support and services that are most meaningful to you.”

Contact Kira at kira@mitoaction.org or call 248-797-2399.

July 25 @ 10:15 am - 11:00 am

Understanding FAOD Guidelines: Created by INFORM

Presented by: Daniela Karall, MD, IBCLC

Understanding FAOD Guidelines: Created by INFORM

July 25 @ 10:15 am – 11:00 am

Guidelines for FAODs are essential as clincians seek to collaborate and find treatments for patients with FAODs. The International Network for Fatty Acid Oxidation Research and Management (INFORM) was created to promote research and discussion into the cause, diagnosis, and management of fatty acid oxidation disorders. Recently, clincians from this group worked together to discuss/create and publish guidelines for FAODs. This presentation will highlight these new guidelines!

About the Speaker

Daniela Karall, MD, IBCLC
Daniela Karall, MD, IBCLC

Besides being an active member of INFORM Network, Professor Karall is responsible for inherited metabolic disorders in her current position as a Consultant to the Department for Child and Adolescent Medicine at Medical University of Innsbruck. FAOD dietary research as well as other treatment options, such as anaplerotic therapies, are her primary areas of focus. Professor Karall’s training included neuropediatrics and neonatology / pediatric intensive care, and she is an International board-certified Lactation Consultant.

11:00 am

July 25 @ 11:00 am - 12:00 pm

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders

Presented by: Sarah Grünert, MD

Pregnancies in Women With Long-Chain Fatty Acid Oxidation Disorders

July 25 @ 11:00 am – 12:00 pm

As more women with lcFAODs are now of child-bearing age, questions of safety have arisen. Dr. Grunert will discuss an international study, in which scientists and clincians collected data on 89 pregnancies in 39 women with lcFAODs. Their current data shows that the outcome of pregnancies in lcFAOD patients was generally favorable, despite a significant risk of metabolic decompensation during pregnancy and the postpartum period.

About the Speaker

Sarah Grünert, MD
Sarah Grünert, MD

Prof. Dr. Sarah Grünert is a pediatric metabolic specialist working at the University Children's Hospital Freiburg and associate professor of the Medical Faculty of the University Freiburg. After completing her medical studies in Freiburg, Innsbruck, London and Oxford, she performed her fellowship in Pediatrics at the University Medical Centre in Freiburg, Germany. In 2011, she completed a postdoctoral research fellowship at the University Children's Hospital Zürich, Switzerland. Her main clinical and research interests are fatty acid oxidation defects, hepatic glycogen storage diseases, and disorders of ketone body metabolism. She also is subnetwork coordinator for these diseases in the European Reference Network for Hereditary Metabolic Disorders (MetabERN).

12:00 pm

July 25 @ 12:00 pm - 12:30 pm

Lunch Break

Lunch Break

July 25 @ 12:00 pm – 12:30 pm

12:30 pm

July 25 @ 12:30 pm - 1:15 pm

FAOD Updates

Presented by: Jerry Vockley, MD, PhD, FACMG

FAOD Updates

July 25 @ 12:30 pm – 1:15 pm

Dr. Vockley will share current treatments and potiential therapies in the FAOD community, with our yearly, “FAOD Updates!”

About the Speaker

Jerry Vockley, MD, PhD, FACMG
Jerry Vockley, MD, PhD, FACMG

Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his MD and PhD degrees in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia, Pennsylvania. He completed his pediatric residency at the Denver Children’s Hospital, Denver, Colorado, and his postdoctoral fellowship in Human Genetic and Pediatrics at Yale University School of Medicine in New Haven, Connecticut. Before assuming his current position in Pittsburgh, Dr. Vockley was Chair of Medical Genetics in the Mayo Clinic School of Medicine. 

Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has published over 400 peer reviewed scholarly articles and is the principal or Co-investigator on multiple NIH grants. Dr. Vockley also has an active clinical research program and participates in and consults on multiple gene therapy trials. Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He has been elected as a Fellow/Member of the American Association for the Advancement of Science, the Association of American Physicians, and the American Society for Clinical Investigation. 

Dr. Vockley is a Founding Fellow of the American College of Medical Genetics and Genomics, and currently serves on its board of directors. He is co-founder and co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He has served as chair of the Pennsylvania State Newborn Screening Advisory Committee and is a past president of the Society for the Inherited Metabolic Disorders (SIMD). He is co-founder and editor of the SIMD North American Metabolic Academy. He provides support for numerous family advocacy groups including MitoAction, the United Mitochondrial Disease Foundation, the National PKU Association, and the Organic Acidemia Association. He has received the National Organization of Rare Diseases Scientific and Medical Trailblazer Rare Impact Award (2025) The Organic Acidemia Association Award of Excellence (2021), and the March of Dimes Champion for Babies Award (2015).

1:00 pm

July 25 @ 1:15 pm - 1:30 pm

Break

Break

July 25 @ 1:15 pm – 1:30 pm

1:30 pm

July 25 @ 1:30 pm - 2:55 pm

Emerging Genetic Therapies for FAODs

Presented by: Jerry Vockley, MD, PhD, FACMG Melanie Gillingham, PhD, RD, LD Dwight Koeberl, MD, PhD

Emerging Genetic Therapies for FAODs

July 25 @ 1:30 pm – 2:55 pm

New genetic therapies are under development for many rare diseases, and some have been approved by the FDA. However, none are approved for FAOD. This presentation will share ongoing research in three different laboratories aimed at developing mRNA and gene therapies for these disorders.

About the Speaker

Jerry Vockley, MD, PhD, FACMG
Jerry Vockley, MD, PhD, FACMG

Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his MD and PhD degrees in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia, Pennsylvania. He completed his pediatric residency at the Denver Children’s Hospital, Denver, Colorado, and his postdoctoral fellowship in Human Genetic and Pediatrics at Yale University School of Medicine in New Haven, Connecticut. Before assuming his current position in Pittsburgh, Dr. Vockley was Chair of Medical Genetics in the Mayo Clinic School of Medicine. 

Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has published over 400 peer reviewed scholarly articles and is the principal or Co-investigator on multiple NIH grants. Dr. Vockley also has an active clinical research program and participates in and consults on multiple gene therapy trials. Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He has been elected as a Fellow/Member of the American Association for the Advancement of Science, the Association of American Physicians, and the American Society for Clinical Investigation. 

Dr. Vockley is a Founding Fellow of the American College of Medical Genetics and Genomics, and currently serves on its board of directors. He is co-founder and co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He has served as chair of the Pennsylvania State Newborn Screening Advisory Committee and is a past president of the Society for the Inherited Metabolic Disorders (SIMD). He is co-founder and editor of the SIMD North American Metabolic Academy. He provides support for numerous family advocacy groups including MitoAction, the United Mitochondrial Disease Foundation, the National PKU Association, and the Organic Acidemia Association. He has received the National Organization of Rare Diseases Scientific and Medical Trailblazer Rare Impact Award (2025) The Organic Acidemia Association Award of Excellence (2021), and the March of Dimes Champion for Babies Award (2015).

Melanie Gillingham, PhD, RD, LD
Melanie Gillingham, PhD, RD, LD

Dr. Melanie Gillingham’s research in the Department of Molecular and Medical Genetics has focused on various novel therapies for fatty acid oxidation disorders. For 20 years, Dr. Gillingham and her colleagues have conducted clinical trials in subjects with disorders in the fatty acid oxidation pathway. She has examined the effects of medium chain triglycerides (MCT) supplements prior to exercise on exercise performance among subjects with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency receiving the Emmanuel Shapira Award for best paper in Molecular Genetics and Metabolism. The Gillingham lab has evaluated the effects of increased dietary protein on metabolic control and energy balance in subjects with LCHAD, carnitine palmitoyltransferase 2 (CPT-2) and very long-chain acylCoA dehydrogenase (VLCAD) deficiencies. In a separate study, Dr. Gillingham conducted supervised metabolic fasting studies in young children with a polymorphism of the CPT1A gene to determine if they have an altered fasting response similar to other fatty acid oxidation disorders.

In 2014, a group of FAO researchers, under the leadership of Dr. Jerry Vockley, founded the International Network for Fatty Acid Oxidation Research and Management (INFORM), an international group working for the advancement of medical and nutrition therapies for fatty acid oxidation disorders (www.informnetwork.org). Dr. Gillingham participates on the organizing committee of INFORM.

Dr. Vockley and Dr. Gillingham completed a randomized trial to examine the effects of an odd-chain fatty acid supplement, triheptanion, on myopathy and cardiac function of patients with long-chain fatty acid oxidation disorders. This is the largest randomized controlled trial conducted in these disorders to date and was recently selected for the Garrod award by the Society for the Study of Inborn Errors of Metabolism (SSIEM). Dr. Gillingham has also conducted a series of studies examining the etiology of retinopathy in LCHAD and the role of diet in the progression of vision loss. Dr. Gillingham is currently conducting a larger natural history study of LCHAD retinopathy.

Dwight Koeberl, MD, PhD
Dwight Koeberl, MD, PhD

Dr. Koeberl attended Carleton College, and then Mayo Medical School and Graduate School, before moving to UCSF for his pediatrics residency.  He then completed fellowship training in Clinical and Biochemical Genetics at the University of Washington, before joining the Division of Medical Genetics in the Department of Pediatrics at Duke University in 1999.  He serves as Medical Director for the Pediatrics Biochemical Genetics Laboratory and sees patients in the Metabolic Clinic. His research has focused on the development of new therapy for inherited metabolic disorders, including glycogen storage disease type Ia and Pompe disease. He initiated a clinical trial of AAV8 gene therapy for Pompe disease that is ongoing. His laboratory is currently developing genetic therapies for trifunctional protein deficiency and LCHAD deficiency. 

2:30 pm

July 25 @ 2:55 pm - 3:00 pm

Break

Break

July 25 @ 2:55 pm – 3:00 pm

3:00 pm

July 25 @ 3:00 pm - 4:00 pm

Patient/Family Panel

Patient/Family Panel

July 25 @ 3:00 pm – 4:00 pm

Patients and Caregivers from the FAOD community will have time to share their wisdom and lessons learned during their journey. They will tackle pre-prepared questions, and select questions during the panel discussion. If you would like to submit a question ahead of time please contact Stephanie Harry at sharry@mitoaction.org.

4:00 pm

July 25 @ 4:00 pm - 4:30 pm

Closing

Closing

July 25 @ 4:00 pm – 4:30 pm

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Schedule for Sunday, July 26, 2026

8 events found.

Events for July 26, 2026

Today

1:00 pm

July 26 @ 1:00 pm - 1:15 pm

Welcome

Presented by: Kira Mann Stephanie Harry

Welcome

July 26 @ 1:00 pm – 1:15 pm

About the Speaker

Kira Mann
Kira Mann

Kira serves as CEO of MitoAction and champions the growth of the programs and services offered by MitoAction. Her priority is to ensure that each and every person affected by mitochondrial disease knows they are not alone and that the MitoAction team will be here every step of their journey. Kira is committed to stewarding key funding opportunities, strengthening the organization’s business development and governance and working with the community to increase MitoAction’s national impact and presence in the areas of aware- ness, education and advocacy.

“I am honored to lead this incredible team who works tirelessly each and every day on behalf of the amazing community we serve. I love hearing from our families, and I welcome you to reach out, share your story and help ensure that MitoAction is doing everything we can to pro- vide the support and services that are most meaningful to you.”

Contact Kira at kira@mitoaction.org or call 248-797-2399.

Stephanie Harry
Stephanie Harry

Stephanie’s son was diagnosed in 2008 with LCHAD deficiency. She spent her son’s early years educating herself through research, journal articles, work groups, and clinicians. She worked alongside her son’s dietitian to publish a children’s book called “My Special Body” geared toward educating young children with LC-FAODs. She is passionate about education, mentorship, and advocacy. In 2022 Stephanie joined the MitoAction team to support the greater mitochondrial community.

“I am so excited to be a part of the MitoAction team! My goal is to always create a safe inquisitive space where people feel loved, listened to and have continued access to meaningful resources. I look forward to connecting with each family and patient, and feel honored to walk this journey with you!”

Contact Stephanie at sharry@mitoaction.org.

July 26 @ 1:15 pm - 2:00 pm

Cultivating a New Normal: A Guide for New Families with FAODs

Presented by: Georgianne Arnold, MD, Phd Stephanie Harry

Cultivating a New Normal: A Guide for New Families with FAODs

July 26 @ 1:15 pm – 2:00 pm

When a child is diagnosed with an FAOD the world of a caregiver drastically changes. This presentation will draw on the insight of both a long-standing geneticist in the FAOD community and parent who is 17 years into the journey. Together they will explore topics that families face who are new to the journey. If you have a newborn through high schooler, this session is for you!

About the Speaker

Georgianne Arnold, MD, Phd
Georgianne Arnold, MD, Phd

Dr. Arnold graduated from Indiana University with degrees in biology and chemistry, and has a Masters degree in Medical Genetics from Indiana University-Purdue University at Indianapolis. She graduated from medical school from Upstate Medical University, and completed a residency in Pediatrics at Northwestern University. Her genetics training was at the University of Colorado and she is boarded in Clinical Biochemical Genetics and Clinical Genetics.

Dr. Arnold was Clinical Director and most recently Clinical Research Director at the University of Pittsburgh. She is an Emeritus Professor, and a consultant with VMP Genetics. Dr. Arnold is the past president of the Society for Inherited Metabolic Disorders, and recipient of the Shapira award for the best member’s paper in Molecular Genetics and Metabolism. She has a long-standing interest in fatty acid oxidation disorders, working with Dr. Vockley for 13 years.

Stephanie Harry
Stephanie Harry

Stephanie’s son was diagnosed in 2008 with LCHAD deficiency. She spent her son’s early years educating herself through research, journal articles, work groups, and clinicians. She worked alongside her son’s dietitian to publish a children’s book called “My Special Body” geared toward educating young children with LC-FAODs. She is passionate about education, mentorship, and advocacy. In 2022 Stephanie joined the MitoAction team to support the greater mitochondrial community.

“I am so excited to be a part of the MitoAction team! My goal is to always create a safe inquisitive space where people feel loved, listened to and have continued access to meaningful resources. I look forward to connecting with each family and patient, and feel honored to walk this journey with you!”

Contact Stephanie at sharry@mitoaction.org.

2:00 pm

July 26 @ 2:00 pm - 3:00 pm

From Supplements to Weight Loss –  Maximizing Your Nutrition Health

Presented by: Melanie Gillingham, PhD, RD, LD

From Supplements to Weight Loss –  Maximizing Your Nutrition Health

July 26 @ 2:00 pm – 3:00 pm

This presentation will review the diet records and current supplements from participants in the Natural History of LCHADD Retinopathy study. Then Dr. Gillingham will discuss how to maximize micronutrient intake, what is the right amount of protein, and how to think about body weight and weight loss while also managing an FAOD.

About the Speaker

Melanie Gillingham, PhD, RD, LD
Melanie Gillingham, PhD, RD, LD

Dr. Melanie Gillingham’s research in the Department of Molecular and Medical Genetics has focused on various novel therapies for fatty acid oxidation disorders. For 20 years, Dr. Gillingham and her colleagues have conducted clinical trials in subjects with disorders in the fatty acid oxidation pathway. She has examined the effects of medium chain triglycerides (MCT) supplements prior to exercise on exercise performance among subjects with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency receiving the Emmanuel Shapira Award for best paper in Molecular Genetics and Metabolism. The Gillingham lab has evaluated the effects of increased dietary protein on metabolic control and energy balance in subjects with LCHAD, carnitine palmitoyltransferase 2 (CPT-2) and very long-chain acylCoA dehydrogenase (VLCAD) deficiencies. In a separate study, Dr. Gillingham conducted supervised metabolic fasting studies in young children with a polymorphism of the CPT1A gene to determine if they have an altered fasting response similar to other fatty acid oxidation disorders.

In 2014, a group of FAO researchers, under the leadership of Dr. Jerry Vockley, founded the International Network for Fatty Acid Oxidation Research and Management (INFORM), an international group working for the advancement of medical and nutrition therapies for fatty acid oxidation disorders (www.informnetwork.org). Dr. Gillingham participates on the organizing committee of INFORM.

Dr. Vockley and Dr. Gillingham completed a randomized trial to examine the effects of an odd-chain fatty acid supplement, triheptanion, on myopathy and cardiac function of patients with long-chain fatty acid oxidation disorders. This is the largest randomized controlled trial conducted in these disorders to date and was recently selected for the Garrod award by the Society for the Study of Inborn Errors of Metabolism (SSIEM). Dr. Gillingham has also conducted a series of studies examining the etiology of retinopathy in LCHAD and the role of diet in the progression of vision loss. Dr. Gillingham is currently conducting a larger natural history study of LCHAD retinopathy.

3:00 pm

July 26 @ 3:00 pm - 4:00 pm

Beyond Traditional Physical Therapy: Exploring New Paths in Metabolic Care

Presented by: Pamela Tucker, DPT, PT Brian Weber, DPT, CFMT, FFMT, FAFS, FAAOMPT

Beyond Traditional Physical Therapy: Exploring New Paths in Metabolic Care

July 26 @ 3:00 pm – 4:00 pm

This session introduces caregivers and patients to alternative therapy options—including aquatic therapy, hippotherapy, and emerging modalities like red light therapy and compression recovery systems. Presenters will explain how these approaches may support strength, endurance, and overall function, while offering practical guidance on safety, access, and real-world use. Attendees will leave with a clearer understanding of how to thoughtfully incorporate these therapies into everyday care.

About the Speaker

Pamela Tucker, DPT, PT
Pamela Tucker, DPT, PT

Dr. Pamela Tucker, PT, DPT, is a physical therapist at Bethany Children's Health Center, where she practices on the medical rehabilitation unit, specializing in the care of medically complex pediatric patients. She earned her undergraduate degree from Duke University and her doctorate in Physical Therapy from Franklin Pierce University.

Dr. Tucker brings a diverse clinical background spanning acute care, inpatient rehabilitation, and outpatient physical therapy, with experience treating infant, pediatric, and adult populations. Her clinical expertise focuses on neurorehabilitation, functional mobility, and optimizing participation and independence across the continuum of care.

A recognized national and international speaker, Dr. Tucker has contributed to the advancement of rehabilitation practice through multiple peer-reviewed publications and professional presentations. She is committed to translating evidence into practice and advancing interdisciplinary care for individuals with complex medical and neurological conditions. Her research interests include physical therapy interventions for children with inherited metabolic disorders, aquatic physical therapy, concussion management, and robotic-assisted mobility training. Dr. Tucker is currently working on a physical therapy protocol to recover from rhabdomyolysis.

Brian Weber, DPT, CFMT, FFMT, FAFS, FAAOMPT
Brian Weber, DPT, CFMT, FFMT, FAFS, FAAOMPT

Brian Weber, DPT, CFMT, FFMT, FAFS, FAAOMPT is the founder of KINECIO Physical Therapy in Woodbury, Minnesota, where he specializes in second opinions and complex case management. Dr. Weber received his Doctorate in Physical Therapy from the University of Iowa and completed fellowships in Functional Manual Therapy through the Institute of Physical Art and Applied Functional Science through the Gray Institute. His work focuses on integrating advanced manual therapy, movement science, and whole-body clinical reasoning to improve movement, performance, and quality of life.

4:00 pm

July 26 @ 4:00 pm - 4:45 pm

Development of a Cell-in-a-Dish Model to Study Peripheral Neuropathy in LCHADD

Presented by: Chen Zhang

Development of a Cell-in-a-Dish Model to Study Peripheral Neuropathy in LCHADD

July 26 @ 4:00 pm – 4:45 pm

Scientists are aiming to better understand the mechanisms underlying peripheral nervous system dysfunction in LCHADD/MTPD. The limited accessibility of human neural tissues and the lack of disease-specific experimental models, mechanistic studies of peripheral neuropathy (PN) in LCHADD/MTPD remain challenging. In this presentation, Chen Zhang will introduce and explain a cell-in-a-dish platform, combining human stem cell-derived neural cells and primary rat cells to investigate the interactions/effects of circulating metabolites on neural cells and sensory neuron–Schwann cell itnteractions.

About the Speaker

Chen Zhang
Chen Zhang

Chen Zhang received her Master’s degree in Biochemistry and Molecular Biology from the University of Chinese Academy of Sciences. Prior to joining Aarhus University, she worked as a research assistant at Qilu Hospital, China, where her research focused on mitochondrial diseases.

Chen Zhang is currently a PhD student in the Department of Clinical Medicine at Aarhus University, Denmark. Her research centers on developing and applying the “LCHADD PN-in-a-dish” model in combination with biochemical analyses and multi-omics approaches to investigate fatty acid oxidation-related neuropathy. Through this work, she aims to advance the understanding of peripheral neuropathy in LCHADD and related metabolic disorders, including diabetes, and to support the development of future therapeutic strategies.

4:30 pm

July 26 @ 4:45 pm - 5:00 pm

Break

Break

July 26 @ 4:45 pm – 5:00 pm

5:00 pm

July 26 @ 5:00 pm - 6:00 pm

Clinician Panel

Presented by: Jerry Vockley, MD, PhD, FACMG Melanie Gillingham, PhD, RD, LD Georgianne Arnold, MD, Phd Pamela Tucker, DPT, PT

Clinician Panel

July 26 @ 5:00 pm – 6:00 pm

Bring your questions to ask during the Q&A session, or feel free to submit them ahead of time to Stephanie Harry at sharry@mitoaction.org.

About the Speaker

Jerry Vockley, MD, PhD, FACMG
Jerry Vockley, MD, PhD, FACMG

Dr. Vockley received his undergraduate degree at Carnegie-Mellon University in Pittsburgh, Pennsylvania, and received his MD and PhD degrees in Medicine and Genetics from the University of Pennsylvania School of Medicine in Philadelphia, Pennsylvania. He completed his pediatric residency at the Denver Children’s Hospital, Denver, Colorado, and his postdoctoral fellowship in Human Genetic and Pediatrics at Yale University School of Medicine in New Haven, Connecticut. Before assuming his current position in Pittsburgh, Dr. Vockley was Chair of Medical Genetics in the Mayo Clinic School of Medicine. 

Dr. Vockley is internationally recognized as a leader in the field of inborn errors of metabolism. His current research focuses on mitochondrial energy metabolism, novel therapies for disorders of fatty acid oxidation and amino acid metabolism, and population genetics of the Plain communities in the United States. He has published over 400 peer reviewed scholarly articles and is the principal or Co-investigator on multiple NIH grants. Dr. Vockley also has an active clinical research program and participates in and consults on multiple gene therapy trials. Dr. Vockley has served on numerous national and international scientific boards including the Advisory Committee (to the Secretary of Health and Human Services) on Heritable Disorders in Newborns and Children where he was chair of the technology committee. He has been elected as a Fellow/Member of the American Association for the Advancement of Science, the Association of American Physicians, and the American Society for Clinical Investigation. 

Dr. Vockley is a Founding Fellow of the American College of Medical Genetics and Genomics, and currently serves on its board of directors. He is co-founder and co-chair of the International Network on Fatty Acid Oxidation Research and Therapy (INFORM). He has served as chair of the Pennsylvania State Newborn Screening Advisory Committee and is a past president of the Society for the Inherited Metabolic Disorders (SIMD). He is co-founder and editor of the SIMD North American Metabolic Academy. He provides support for numerous family advocacy groups including MitoAction, the United Mitochondrial Disease Foundation, the National PKU Association, and the Organic Acidemia Association. He has received the National Organization of Rare Diseases Scientific and Medical Trailblazer Rare Impact Award (2025) The Organic Acidemia Association Award of Excellence (2021), and the March of Dimes Champion for Babies Award (2015).

Melanie Gillingham, PhD, RD, LD
Melanie Gillingham, PhD, RD, LD

Dr. Melanie Gillingham’s research in the Department of Molecular and Medical Genetics has focused on various novel therapies for fatty acid oxidation disorders. For 20 years, Dr. Gillingham and her colleagues have conducted clinical trials in subjects with disorders in the fatty acid oxidation pathway. She has examined the effects of medium chain triglycerides (MCT) supplements prior to exercise on exercise performance among subjects with long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) deficiency receiving the Emmanuel Shapira Award for best paper in Molecular Genetics and Metabolism. The Gillingham lab has evaluated the effects of increased dietary protein on metabolic control and energy balance in subjects with LCHAD, carnitine palmitoyltransferase 2 (CPT-2) and very long-chain acylCoA dehydrogenase (VLCAD) deficiencies. In a separate study, Dr. Gillingham conducted supervised metabolic fasting studies in young children with a polymorphism of the CPT1A gene to determine if they have an altered fasting response similar to other fatty acid oxidation disorders.

In 2014, a group of FAO researchers, under the leadership of Dr. Jerry Vockley, founded the International Network for Fatty Acid Oxidation Research and Management (INFORM), an international group working for the advancement of medical and nutrition therapies for fatty acid oxidation disorders (www.informnetwork.org). Dr. Gillingham participates on the organizing committee of INFORM.

Dr. Vockley and Dr. Gillingham completed a randomized trial to examine the effects of an odd-chain fatty acid supplement, triheptanion, on myopathy and cardiac function of patients with long-chain fatty acid oxidation disorders. This is the largest randomized controlled trial conducted in these disorders to date and was recently selected for the Garrod award by the Society for the Study of Inborn Errors of Metabolism (SSIEM). Dr. Gillingham has also conducted a series of studies examining the etiology of retinopathy in LCHAD and the role of diet in the progression of vision loss. Dr. Gillingham is currently conducting a larger natural history study of LCHAD retinopathy.

Georgianne Arnold, MD, Phd
Georgianne Arnold, MD, Phd

Dr. Arnold graduated from Indiana University with degrees in biology and chemistry, and has a Masters degree in Medical Genetics from Indiana University-Purdue University at Indianapolis. She graduated from medical school from Upstate Medical University, and completed a residency in Pediatrics at Northwestern University. Her genetics training was at the University of Colorado and she is boarded in Clinical Biochemical Genetics and Clinical Genetics.

Dr. Arnold was Clinical Director and most recently Clinical Research Director at the University of Pittsburgh. She is an Emeritus Professor, and a consultant with VMP Genetics. Dr. Arnold is the past president of the Society for Inherited Metabolic Disorders, and recipient of the Shapira award for the best member’s paper in Molecular Genetics and Metabolism. She has a long-standing interest in fatty acid oxidation disorders, working with Dr. Vockley for 13 years.

Pamela Tucker, DPT, PT
Pamela Tucker, DPT, PT

Dr. Pamela Tucker, PT, DPT, is a physical therapist at Bethany Children's Health Center, where she practices on the medical rehabilitation unit, specializing in the care of medically complex pediatric patients. She earned her undergraduate degree from Duke University and her doctorate in Physical Therapy from Franklin Pierce University.

Dr. Tucker brings a diverse clinical background spanning acute care, inpatient rehabilitation, and outpatient physical therapy, with experience treating infant, pediatric, and adult populations. Her clinical expertise focuses on neurorehabilitation, functional mobility, and optimizing participation and independence across the continuum of care.

A recognized national and international speaker, Dr. Tucker has contributed to the advancement of rehabilitation practice through multiple peer-reviewed publications and professional presentations. She is committed to translating evidence into practice and advancing interdisciplinary care for individuals with complex medical and neurological conditions. Her research interests include physical therapy interventions for children with inherited metabolic disorders, aquatic physical therapy, concussion management, and robotic-assisted mobility training. Dr. Tucker is currently working on a physical therapy protocol to recover from rhabdomyolysis.

6:00 pm

July 26 @ 6:00 pm - 6:30 pm

Closing

Closing

July 26 @ 6:00 pm – 6:30 pm

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